Campomelia Cumming Type Latest Advances

A long-term survivor of campomelic dysplasia with 46,XY disorder of sex development and hypogonadotropic hypogonadism.

Journal: BMJ case reports

Published: December 23, 2025

Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.

Journal: Journal of clinical research in pediatric endocrinology

Published: June 10, 2025

Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: May 15, 2025

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

Journal: Orphanet journal of rare diseases

Published: April 07, 2025

Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: January 24, 2025

Long-Term Outcomes of Airway Management in 6 Children With Campomelic Dysplasia.

Journal: The Annals of otology, rhinology, and laryngology

Published: October 15, 2024

SOX9 haploinsufficiency reveals SOX9-Noggin interaction in BMP-SMAD signaling pathway in chondrogenesis.

Journal: Cellular and molecular life sciences : CMLS

Published: September 06, 2024

Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.

Journal: HGG advances

Published: August 26, 2024

Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.

Journal: Biomolecules

Published: April 04, 2024

Dissecting SOX9 dynamics reveals its differential regulation in osteoarthritis.

Journal: Journal of cellular physiology

Published: March 01, 2024

The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve-wiedemann Syndrome: Retrospective Case Series and Prenatal Review.

Journal: Journal of medical ultrasound

Published: December 26, 2023

Chromatin profiling identifies chondrocyte-specific Sox9 enhancers important for skeletal development.

Journal: JCI insight

Published: September 06, 2023